ClinVar Miner

Variants studied for Nephronophthisis 15

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
61 47 563 496 49 2 1189

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CEP164 60 47 562 496 49 2 1187
APOA1, APOA4, APOA5, APOC3, BACE1, CEP164, DSCAML1, FXYD2, FXYD6, FXYD6-FXYD2, IL10RA, PAFAH1B2, PCSK7, RNF214, SIDT2, SIK3, TAGLN, TMPRSS13 1 0 0 0 0 0 1
CEP164, DSCAML1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 56 31 559 484 48 0 1178
Fulgent Genetics, Fulgent Genetics 1 14 95 53 1 0 164
Genome-Nilou Lab 0 0 0 0 8 0 8
OMIM 5 0 0 0 0 0 5
Baylor Genetics 0 0 3 0 0 0 3
Revvity Omics, Revvity Omics 0 0 3 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 1 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 0 1

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